Incidental Mutation 'BB019:Brca1'
| ID |
643086 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brca1
|
| Ensembl Gene |
ENSMUSG00000017146 |
| Gene Name |
breast cancer 1, early onset |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
BB019
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
101379590-101442781 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101430843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 33
(E33G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017290
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017290]
[ENSMUST00000142086]
[ENSMUST00000190862]
|
| AlphaFold |
P48754 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000017290
AA Change: E33G
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000017290
Gene: ENSMUSG00000017146
AA Change: E33G
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
24 |
64 |
1.82e-7 |
SMART |
|
Pfam:BRCT_assoc
|
342 |
503 |
2.6e-69 |
PFAM |
|
low complexity region
|
1173 |
1185 |
N/A |
INTRINSIC |
|
Blast:BRCT
|
1343 |
1406 |
2e-16 |
BLAST |
|
low complexity region
|
1555 |
1575 |
N/A |
INTRINSIC |
|
BRCT
|
1587 |
1669 |
3.87e-11 |
SMART |
|
BRCT
|
1700 |
1787 |
3.42e-12 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000142086
AA Change: E33G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139813
Gene: ENSMUSG00000017146
AA Change: E33G
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
24 |
64 |
8.6e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190862
|
| SMART Domains |
Protein: ENSMUSP00000139599
Gene: ENSMUSG00000017146
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jm7a_
|
1 |
56 |
1e-6 |
SMART |
|
PDB:1JM7|A
|
1 |
63 |
1e-30 |
PDB |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2009]
PHENOTYPE: Homozygous null mutants are embryonic lethal with abnormalities including growth retardation, neural tube defects, and mesoderm abnormalities; conditional mutations cause genetic instability and enhanced tumor formation; mutants with truncated BRCA1 protein survive, have a kinky tail, pigmentation anomalies, male infertility and increased tumor incidence. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
A |
G |
2: 155,415,100 (GRCm39) |
R666G |
unknown |
Het |
| Adam21 |
T |
A |
12: 81,606,938 (GRCm39) |
N275Y |
probably damaging |
Het |
| Arhgap24 |
A |
T |
5: 102,993,835 (GRCm39) |
|
probably benign |
Het |
| Arhgef1 |
C |
T |
7: 24,619,135 (GRCm39) |
L459F |
probably damaging |
Het |
| Bbx |
A |
T |
16: 50,030,806 (GRCm39) |
|
probably null |
Het |
| Blk |
C |
T |
14: 63,611,008 (GRCm39) |
G445S |
possibly damaging |
Het |
| Cacna1s |
T |
G |
1: 136,012,097 (GRCm39) |
L513R |
probably damaging |
Het |
| Cnn3 |
T |
A |
3: 121,245,078 (GRCm39) |
M98K |
probably benign |
Het |
| Cttnbp2 |
T |
A |
6: 18,427,532 (GRCm39) |
L716F |
probably damaging |
Het |
| Dlgap1 |
A |
T |
17: 70,823,233 (GRCm39) |
R73W |
probably damaging |
Het |
| Dnajc4 |
A |
G |
19: 6,965,638 (GRCm39) |
L182P |
probably damaging |
Het |
| Dock2 |
T |
C |
11: 34,217,998 (GRCm39) |
M1191V |
probably benign |
Het |
| Fam13a |
C |
T |
6: 58,960,873 (GRCm39) |
|
probably null |
Het |
| Fbn2 |
C |
T |
18: 58,153,555 (GRCm39) |
G2569E |
possibly damaging |
Het |
| Fes |
T |
C |
7: 80,029,620 (GRCm39) |
I623V |
probably damaging |
Het |
| Fyco1 |
A |
C |
9: 123,658,055 (GRCm39) |
L707R |
possibly damaging |
Het |
| Gadd45b |
T |
A |
10: 80,766,169 (GRCm39) |
V7E |
possibly damaging |
Het |
| Gm19410 |
T |
A |
8: 36,262,753 (GRCm39) |
C897S |
probably damaging |
Het |
| Hk1 |
A |
G |
10: 62,151,299 (GRCm39) |
L31P |
probably damaging |
Het |
| Hoxa4 |
T |
G |
6: 52,167,397 (GRCm39) |
K261N |
probably damaging |
Het |
| Hrh4 |
T |
A |
18: 13,148,869 (GRCm39) |
L77* |
probably null |
Het |
| Igf1r |
A |
T |
7: 67,861,802 (GRCm39) |
I1121F |
possibly damaging |
Het |
| Igkv16-104 |
A |
T |
6: 68,402,778 (GRCm39) |
I24L |
probably benign |
Het |
| Itk |
A |
T |
11: 46,231,519 (GRCm39) |
W346R |
probably benign |
Het |
| Kdm2a |
A |
G |
19: 4,369,184 (GRCm39) |
S1144P |
probably damaging |
Het |
| Krt86 |
A |
T |
15: 101,374,473 (GRCm39) |
S289C |
probably damaging |
Het |
| Lonrf1 |
T |
C |
8: 36,690,070 (GRCm39) |
I663V |
probably benign |
Het |
| Lrp2 |
T |
G |
2: 69,256,371 (GRCm39) |
I4590L |
probably benign |
Het |
| Lrrc8d |
C |
T |
5: 105,960,891 (GRCm39) |
R434C |
probably damaging |
Het |
| Maneal |
T |
C |
4: 124,755,638 (GRCm39) |
Y108C |
probably damaging |
Het |
| Myh8 |
G |
A |
11: 67,185,430 (GRCm39) |
V894I |
probably benign |
Het |
| Ncam2 |
T |
G |
16: 81,412,708 (GRCm39) |
L732R |
probably damaging |
Het |
| Nsun4 |
A |
T |
4: 115,901,997 (GRCm39) |
D156E |
probably damaging |
Het |
| Or10z1 |
T |
C |
1: 174,078,260 (GRCm39) |
I78V |
probably benign |
Het |
| Or1e23 |
A |
C |
11: 73,407,983 (GRCm39) |
L14R |
probably damaging |
Het |
| Or2n1d |
A |
T |
17: 38,646,146 (GRCm39) |
I33L |
probably benign |
Het |
| Or5b106 |
A |
T |
19: 13,123,345 (GRCm39) |
M226K |
probably benign |
Het |
| Or5v1b |
T |
C |
17: 37,841,075 (GRCm39) |
I69T |
probably benign |
Het |
| Or6c66 |
C |
A |
10: 129,461,094 (GRCm39) |
V279F |
probably damaging |
Het |
| P2rx7 |
G |
A |
5: 122,782,245 (GRCm39) |
V37I |
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,481,359 (GRCm39) |
R235G |
probably benign |
Het |
| Pcdhga1 |
T |
C |
18: 37,796,513 (GRCm39) |
S506P |
probably damaging |
Het |
| Pira2 |
A |
T |
7: 3,845,435 (GRCm39) |
|
probably null |
Het |
| Plch1 |
A |
G |
3: 63,609,402 (GRCm39) |
V935A |
probably benign |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Prpf8 |
A |
G |
11: 75,383,423 (GRCm39) |
D607G |
possibly damaging |
Het |
| Ptdss1 |
T |
C |
13: 67,114,496 (GRCm39) |
W215R |
probably damaging |
Het |
| Ptpn9 |
C |
A |
9: 56,943,900 (GRCm39) |
P258Q |
possibly damaging |
Het |
| Rfpl4b |
A |
G |
10: 38,697,346 (GRCm39) |
V85A |
possibly damaging |
Het |
| Sacs |
C |
A |
14: 61,442,327 (GRCm39) |
Q1458K |
probably damaging |
Het |
| Scfd2 |
A |
T |
5: 74,692,211 (GRCm39) |
S24T |
probably benign |
Het |
| Siae |
A |
G |
9: 37,544,980 (GRCm39) |
D325G |
probably benign |
Het |
| Slc22a23 |
C |
A |
13: 34,366,960 (GRCm39) |
A683S |
probably damaging |
Het |
| Slc44a3 |
A |
T |
3: 121,306,009 (GRCm39) |
I244N |
possibly damaging |
Het |
| Srrm2 |
T |
A |
17: 24,037,501 (GRCm39) |
S1382T |
probably benign |
Het |
| Tfap2c |
A |
G |
2: 172,393,706 (GRCm39) |
Y207C |
probably damaging |
Het |
| Timd5 |
C |
A |
11: 46,426,366 (GRCm39) |
P158T |
probably benign |
Het |
| Tnc |
T |
C |
4: 63,926,857 (GRCm39) |
I890V |
probably benign |
Het |
| Trim30a |
A |
T |
7: 104,078,545 (GRCm39) |
I177N |
probably benign |
Het |
| Tshz2 |
T |
A |
2: 169,728,251 (GRCm39) |
M949K |
possibly damaging |
Het |
| Ttn |
T |
G |
2: 76,555,530 (GRCm39) |
T30492P |
probably damaging |
Het |
| Ubb |
C |
T |
11: 62,443,611 (GRCm39) |
Q214* |
probably null |
Het |
| Ulk2 |
A |
G |
11: 61,698,916 (GRCm39) |
S423P |
probably benign |
Het |
| Vmn1r237 |
C |
A |
17: 21,534,725 (GRCm39) |
D149E |
probably benign |
Het |
| Zbtb24 |
A |
G |
10: 41,327,504 (GRCm39) |
D130G |
probably benign |
Het |
| Zfp689 |
C |
A |
7: 127,043,523 (GRCm39) |
G369V |
probably damaging |
Het |
| Zg16 |
A |
G |
7: 126,649,577 (GRCm39) |
F128S |
probably damaging |
Het |
| Zmym1 |
T |
G |
4: 126,944,578 (GRCm39) |
N203T |
possibly damaging |
Het |
|
| Other mutations in Brca1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01095:Brca1
|
APN |
11 |
101,415,195 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01598:Brca1
|
APN |
11 |
101,415,156 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01744:Brca1
|
APN |
11 |
101,415,002 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02128:Brca1
|
APN |
11 |
101,421,808 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02377:Brca1
|
APN |
11 |
101,415,149 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02701:Brca1
|
APN |
11 |
101,416,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02732:Brca1
|
APN |
11 |
101,383,045 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02935:Brca1
|
APN |
11 |
101,380,693 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02940:Brca1
|
APN |
11 |
101,380,738 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03198:Brca1
|
APN |
11 |
101,403,537 (GRCm39) |
splice site |
probably benign |
|
|
BB002:Brca1
|
UTSW |
11 |
101,398,972 (GRCm39) |
missense |
probably benign |
0.01 |
|
BB009:Brca1
|
UTSW |
11 |
101,430,843 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
BB012:Brca1
|
UTSW |
11 |
101,398,972 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4142001:Brca1
|
UTSW |
11 |
101,413,248 (GRCm39) |
unclassified |
probably benign |
|
|
R0048:Brca1
|
UTSW |
11 |
101,415,803 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0048:Brca1
|
UTSW |
11 |
101,415,803 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0109:Brca1
|
UTSW |
11 |
101,421,916 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0109:Brca1
|
UTSW |
11 |
101,421,916 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0144:Brca1
|
UTSW |
11 |
101,416,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0336:Brca1
|
UTSW |
11 |
101,414,819 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0448:Brca1
|
UTSW |
11 |
101,399,047 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0595:Brca1
|
UTSW |
11 |
101,415,713 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0613:Brca1
|
UTSW |
11 |
101,399,036 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0863:Brca1
|
UTSW |
11 |
101,415,596 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0940:Brca1
|
UTSW |
11 |
101,422,969 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0962:Brca1
|
UTSW |
11 |
101,416,192 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1365:Brca1
|
UTSW |
11 |
101,392,822 (GRCm39) |
missense |
probably benign |
|
|
R1391:Brca1
|
UTSW |
11 |
101,417,372 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1467:Brca1
|
UTSW |
11 |
101,421,933 (GRCm39) |
unclassified |
probably benign |
|
|
R1484:Brca1
|
UTSW |
11 |
101,420,638 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1530:Brca1
|
UTSW |
11 |
101,415,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1645:Brca1
|
UTSW |
11 |
101,400,879 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1682:Brca1
|
UTSW |
11 |
101,416,391 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1687:Brca1
|
UTSW |
11 |
101,380,666 (GRCm39) |
missense |
probably benign |
|
|
R1694:Brca1
|
UTSW |
11 |
101,422,925 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1695:Brca1
|
UTSW |
11 |
101,415,281 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1762:Brca1
|
UTSW |
11 |
101,422,844 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1868:Brca1
|
UTSW |
11 |
101,388,839 (GRCm39) |
missense |
probably benign |
|
|
R1973:Brca1
|
UTSW |
11 |
101,417,229 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2034:Brca1
|
UTSW |
11 |
101,380,675 (GRCm39) |
missense |
probably benign |
|
|
R2106:Brca1
|
UTSW |
11 |
101,415,803 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4089:Brca1
|
UTSW |
11 |
101,415,002 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4194:Brca1
|
UTSW |
11 |
101,416,113 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4571:Brca1
|
UTSW |
11 |
101,408,192 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4735:Brca1
|
UTSW |
11 |
101,383,001 (GRCm39) |
splice site |
probably null |
|
|
R4789:Brca1
|
UTSW |
11 |
101,414,758 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4920:Brca1
|
UTSW |
11 |
101,415,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4939:Brca1
|
UTSW |
11 |
101,398,876 (GRCm39) |
missense |
probably benign |
|
|
R4997:Brca1
|
UTSW |
11 |
101,415,159 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5458:Brca1
|
UTSW |
11 |
101,408,111 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5778:Brca1
|
UTSW |
11 |
101,416,127 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6051:Brca1
|
UTSW |
11 |
101,415,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6505:Brca1
|
UTSW |
11 |
101,414,367 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6548:Brca1
|
UTSW |
11 |
101,415,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6971:Brca1
|
UTSW |
11 |
101,424,831 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7091:Brca1
|
UTSW |
11 |
101,417,253 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7246:Brca1
|
UTSW |
11 |
101,414,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7417:Brca1
|
UTSW |
11 |
101,415,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7861:Brca1
|
UTSW |
11 |
101,417,248 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7925:Brca1
|
UTSW |
11 |
101,398,972 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7932:Brca1
|
UTSW |
11 |
101,430,843 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8003:Brca1
|
UTSW |
11 |
101,415,303 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8046:Brca1
|
UTSW |
11 |
101,416,296 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8306:Brca1
|
UTSW |
11 |
101,416,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8483:Brca1
|
UTSW |
11 |
101,416,802 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8685:Brca1
|
UTSW |
11 |
101,380,672 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9072:Brca1
|
UTSW |
11 |
101,393,306 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9073:Brca1
|
UTSW |
11 |
101,393,306 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9486:Brca1
|
UTSW |
11 |
101,414,520 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9505:Brca1
|
UTSW |
11 |
101,403,592 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9616:Brca1
|
UTSW |
11 |
101,416,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTACCAAGAACGATGGCTACAGC -3'
(R):5'- CTGTGTTTTCCAACGGTCTAAGG -3'
Sequencing Primer
(F):5'- TACAGCCAATATACATGAGGAATTCC -3'
(R):5'- TCCAACGGTCTAAGGTTTATTAAAC -3'
|
| Posted On |
2020-08-01 |
Incidental Mutation